Bielas, Stephanie L.
University of Michigan
2 papers on CoChatORCID 0000-0003-0567-5632
Most cited papers
- Verified
SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell
Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus
Cited by 309
- Verified
Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, P. H., Kaur, P., Stephen, J., Guleria, V. S., Kadavigere, R., Girisha, K. M., Bielas, S., Upadhyai, P., & Shukla, A. (2021) · Clinical Genetics
Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases
Cited by 32
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